Variant report

Variant	rs1573507
Chromosome Location	chr18:13294262-13294263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13293376..13296291-chr18:13300592..13303207,3	MCF-7	breast:
2	chr18:13286921..13290760-chr18:13293338..13296944,6	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12456874	1.00[LWK][hapmap]
rs1551364	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940337	0.84[GIH][hapmap];1.00[ASN][1000 genomes]
rs34884640	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56359994	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56398323	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6505796	1.00[CEU][hapmap];0.92[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67133687	1.00[ASN][1000 genomes]
rs8084152	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8097881	0.89[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv909410	chr18:13151544-13308950	Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv2209	chr18:13276410-13316570	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1573507	C18orf1	cis	lymphoblastoid	seeQTL
rs1573507	CIDEA	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13270200-13297600	Weak transcription	Colonic Mucosa	Colon
2	chr18:13274600-13301600	Weak transcription	Brain Substantia Nigra	brain
3	chr18:13274600-13302400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr18:13280800-13299800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:13282800-13295200	Weak transcription	Dnd41	blood
6	chr18:13282800-13301600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:13285000-13316200	Weak transcription	Aorta	Aorta
8	chr18:13285400-13296800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr18:13285400-13302600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr18:13287200-13298000	Weak transcription	Spleen	Spleen
11	chr18:13290000-13301800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:13290400-13295200	Weak transcription	Primary T cells from cord blood	blood
13	chr18:13290400-13297800	Strong transcription	Thymus	Thymus
14	chr18:13291200-13295000	Strong transcription	Fetal Thymus	thymus
15	chr18:13291600-13299800	Weak transcription	Pancreas	Pancrea
16	chr18:13291600-13302000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr18:13291800-13295200	Enhancers	Fetal Heart	heart
18	chr18:13292000-13296600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr18:13292200-13294400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:13292200-13300000	Weak transcription	Adipose Nuclei	Adipose
21	chr18:13292400-13295400	Weak transcription	Lung	lung
22	chr18:13292400-13299800	Weak transcription	Right Atrium	heart
23	chr18:13292400-13302000	Weak transcription	Liver	Liver
24	chr18:13293000-13300000	Weak transcription	Fetal Brain Female	brain
25	chr18:13293000-13301800	Weak transcription	Fetal Stomach	stomach
26	chr18:13293200-13300200	Weak transcription	Brain Anterior Caudate	brain
27	chr18:13293400-13294400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:13293600-13294400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:13293800-13294400	Enhancers	Fetal Muscle Leg	muscle
30	chr18:13293800-13294400	Enhancers	Stomach Smooth Muscle	stomach
31	chr18:13293800-13294600	Enhancers	Left Ventricle	heart
32	chr18:13294000-13296200	Enhancers	Right Ventricle	heart
33	chr18:13294200-13294400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr18:13294200-13294400	Enhancers	Fetal Muscle Trunk	muscle
35	chr18:13294200-13294600	Enhancers	Psoas Muscle	Psoas
36	chr18:13294200-13294800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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